ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.2263+14A>G

gnomAD frequency: 0.00002  dbSNP: rs886038225
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252617 SCV000301877 likely benign not specified criteria provided, single submitter clinical testing
Counsyl RCV000672523 SCV000797634 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2018-02-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000672523 SCV004334286 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2024-01-09 criteria provided, single submitter clinical testing

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